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Gene Review

BBS9  -  Bardet-Biedl syndrome 9

Homo sapiens

Synonyms: B1, Bardet-Biedl syndrome 9 protein, C18, D1, PTHB1, ...
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Disease relevance of BBS9

  • When Sf9 cells were coinfected with baculovirus vectors encoding human pRb and murine D-type cyclins, cyclins D2 and D3, but not D1, bound pRb with high stoichiometry in intact cells [1].
  • We previously reported that mutant mice have abnormally low renal 25-hydroxyvitamin D-1 alpha-hydroxylase (1 alpha-hydroxylase) activity for the prevailing degree of hypophosphatemia [2].
  • Development of squamous metaplasia and differentiation (keratinization) were induced in organ cultures of three hyperplastic alveolar and ductular mammary outgrowth lines (D1, MH5, and MH9) that had been extensively passaged in gland-free mammary fat pads of BALB/c virgin mice [3].
  • We purified the major mitogen for human smooth muscle-like cells in leiomyoma extracts by sequential liquid chromatography on (a) carboxymethyl-Sepharose, (b) heparin-Sepharose columns, (c) cartridges of C18 silica, and (d) linear gradient reverse-phase high performance liquid chromatography [4].
  • The results extend the structural analogies between the secondary quinone binding site in D1 and in subunit L of the photosynthetic reaction center in purple bacteria [5].

Psychiatry related information on BBS9

  • In this study we examine the expression patterns of cyclins A, B1, D1 and E in neuronal nuclei in the hippocampus in autopsied healthy elderly individuals, Alzheimer's disease patients and subjects suffering from cerebrovascular disease with and without co-existing Alzheimer's disease [6].
  • Chronic infections with the hepatitis B virus (HBV) and the hepatitis C virus (HCV) have been implicated in about 80% of cases worldwide, and other known environmental risk factors, including alcohol abuse and dietary intake of aflatoxin B1, might synergize with viral infections [7].

High impact information on BBS9

  • We find that trypanosome fatty acid synthesis is modular, with ELO1 converting C4 to C10, ELO2 extending C10 to C14, and ELO3 elongating C14 to C18 [8].
  • The tsetse vector form requires synthesis of stearate (C18), whereas the bloodstream form needs myristate (C14) [8].
  • Microinjection of anti-cdc25A antibodies into HeLa cells causes their arrest in mitosis. cdc25A and cdc25B display endogenous tyrosine phosphatase activity that is stimulated several-fold, in the absence of cdc2, by stoichiometric addition of either cyclin B1 or B2 but not A or D1 [9].
  • As with D1, the dopamine D5 receptor stimulates adenylyl cyclase activity [10].
  • A second 17 beta-HSD isoform (referred to as type 2) is localized in the endoplasmic reticulum of human trophoblast and is characterized by the preferential oxidation of the C-17 beta-hydroxyl group of C18- and C19-steroids and the C-20 alpha-hydroxyl group of 20 alpha-dihydroprogesterone [11].

Chemical compound and disease context of BBS9

  • Each protein was then digested with lysyl endopeptidase (Achromobacter protease I), which cleaves at the carboxyl side of lysine residues, and the resulting oligopeptides from GP IIb and IIIa were fractionated with HPLC using a C18 reverse-phase column [12].
  • HIP proteolysis by thrombin and chymotrypsin generates essentially two fragments, an NH2-terminal fragment of 25 kDa (N25) and a COOH-terminal fragment of 18 kDa (C18) that appear to be well folded and stable as indicated by circular dichroism and recombinant expression in Escherichia coli [13].
  • Two mutations situated on the face of C-18, predicted to be involved in its interaction with the ligand cyclosporin A, were shown to be critical for CCR5-binding and the inhibition of HIV-1 fusion and infectivity [14].
  • Obligate photoheterotrophic mutants of the cyanobacterium Synechocystis sp. PCC 6803 that carry deletions of conserved residues in the plastoquinone-binding niche of the D1 protein were used to select for spontaneous mutations that restore photoautotrophic growth [15].
  • A maltose binding protein-D1 fusion protein was expressed in Escherichia coli, purified, and used to assess serologic reactivity to D1 by Western blot [16].

Biological context of BBS9

  • The identification of BBS9 illustrates the power of using a combination of comparative genomic analysis, gene expression studies, and homozygosity mapping with SNP arrays in small, consanguineous families for the identification of rare autosomal recessive disorders [17].
  • With no evidence for LOH at 1q42, we focused on the characterization of PTH-B1 [18].
  • CONCLUSIONS: These results indicate marked differences in the ability of C18 fatty acids to reduce food intake that appear not to be related to rate of absorption but may partially be explained by CCK release [19].
  • Furthermore, cDNA microarray analyses of lung tumor samples showed that increased levels of FADD transcripts were significantly correlated with overexpression of cyclins D1 (P < 0.01) and B1 (P < 0.01), genes that are involved in the regulation of cell cycle progression and are inducible by NF-kappaB [20].
  • Here we demonstrate that this molecule, cyclophilin-18 (C-18), is an inhibitor of HIV-1 cell fusion and infection with cell-free virus [21].

Anatomical context of BBS9

  • Three developmentally determined myogenic cell lines derived from C3H 10T1/2 C18 (10T1/2) mouse embryo cells treated with 5-azacytidine were compared with the parental 10T1/2 line for their susceptibility to oncogenic transformation by 3-methylcholanthrene or the activated human c-Ha-ras oncogene [22].
  • Importantly, C-18 protected peripheral blood leukocytes from infection with multiple HIV-1 R5 primary isolates from several clades [21].
  • T gondii C-18 efficiently blocked syncytium formation between human T cells and effector cells expressing R5 but not X4 envelopes [21].
  • Western analysis of thylakoid membranes from wild-type cells cultured at different light intensities detected both forms of D1 in the membrane and showed changes in the ratio of the two forms [23].
  • Light availability influences the ratio of two forms of D1 in cyanobacterial thylakoids [23].

Associations of BBS9 with chemical compounds

  • The antigen bound to DEAE-Sephacel, was not inactivated by mild treatment with base (which hydrolyzes phospholipids) and eluted in ganglioside fractions upon C18 Sep-Pak and upon silicic acid chromatography [24].
  • The induction was elicited by the mixture of dibutyryl cyclic AMP (0.1 mM), prostaglandins E1, E2, and B1 (each 5 micrograms/ml), and papaverine (1 microM) or by a tenfold higher concentration of dibutyryl cyclic AMP (1 mM) alone for 9 days [3].
  • We compared food intake suppression, plasma triglyceride appearance, and cholecystokinin (CCK) response after intestinal infusion of oils enriched with C18 fatty acids of increasing unsaturation [19].
  • With reverse-phase HPLC on a C18 column, using 6 M guanidine-HCl solubilization and a 0.1% trifluoroacetic acid/CH3CN gradient system (Stephens, R. E., 1984, J. Cell Biol. 90:37a [Abstr.]), the relatively less hydrophobic 51-kD tektin elutes at greater than 45% CH3CN, immediately followed by the 55-kD chain [25].
  • Approximately 95% of the 3H labeled material released from [3H]myristate-43K protein by acid methanolysis was extractable in organic solvents and eluted from a C18 reverse-phase HPLC column exclusively at the position of the methyl myristate internal standard [26].

Other interactions of BBS9


Analytical, diagnostic and therapeutic context of BBS9

  • The extra can then be detected in two ways: by HPLC using a reverse phase C18 column, and by sequential Edman degradation [27].
  • Urine was collected, fractionated on a SEP-PAK C18 cartridge, and subjected to reversed-phase high-performance liquid chromatography [28].
  • Purification was performed by gel filtration and HPLC on C18 and C4 columns [29].
  • Proteins in this fraction were further identified by two-dimensional gel electrophoresis as D01, D02, D1*, and E0; intriguingly, these members of the hnRNP D and E groups are nuclear proteins that are not stably associated with hnRNP complexes [30].
  • Detection of aflatoxin B1 in serum samples of male Japanese subjects by radioimmunoassay and high-performance liquid chromatography [31].


  1. Direct binding of cyclin D to the retinoblastoma gene product (pRb) and pRb phosphorylation by the cyclin D-dependent kinase CDK4. Kato, J., Matsushime, H., Hiebert, S.W., Ewen, M.E., Sherr, C.J. Genes Dev. (1993) [Pubmed]
  2. Abnormal parathyroid hormone stimulation of 25-hydroxyvitamin D-1 alpha-hydroxylase activity in the hypophosphatemic mouse. Evidence for a generalized defect of vitamin D metabolism. Nesbitt, T., Drezner, M.K., Lobaugh, B. J. Clin. Invest. (1986) [Pubmed]
  3. Persistence of precursor cells of squamous metaplasia in preneoplastic mammary outgrowth lines from mice. Schaefer, F.V., Custer, R.P., Sorof, S. J. Natl. Cancer Inst. (1984) [Pubmed]
  4. Purification and partial sequencing of the major mitogen for human uterine smooth muscle-like cells in leiomyoma extracts. Sourla, A., Koutsilieris, M. J. Clin. Invest. (1995) [Pubmed]
  5. Mutations in the D1 subunit of photosystem II distinguish between quinone and herbicide binding sites. Ohad, N., Hirschberg, J. Plant Cell (1992) [Pubmed]
  6. Cell cycle-related protein expression in vascular dementia and Alzheimer's disease. Smith, M.Z., Nagy, Z., Esiri, M.M. Neurosci. Lett. (1999) [Pubmed]
  7. Genetic alterations and oncogenic pathways in hepatocellular carcinoma. Lévy, L., Renard, C.A., Wei, Y., Buendia, M.A. Ann. N. Y. Acad. Sci. (2002) [Pubmed]
  8. Fatty acid synthesis by elongases in trypanosomes. Lee, S.H., Stephens, J.L., Paul, K.S., Englund, P.T. Cell (2006) [Pubmed]
  9. Specific activation of cdc25 tyrosine phosphatases by B-type cyclins: evidence for multiple roles of mitotic cyclins. Galaktionov, K., Beach, D. Cell (1991) [Pubmed]
  10. Cloning of the gene for a human dopamine D5 receptor with higher affinity for dopamine than D1. Sunahara, R.K., Guan, H.C., O'Dowd, B.F., Seeman, P., Laurier, L.G., Ng, G., George, S.R., Torchia, J., Van Tol, H.H., Niznik, H.B. Nature (1991) [Pubmed]
  11. 17 beta-Hydroxysteroid dehydrogenase type 2: chromosomal assignment and progestin regulation of gene expression in human endometrium. Casey, M.L., MacDonald, P.C., Andersson, S. J. Clin. Invest. (1994) [Pubmed]
  12. Purification and partial amino acid sequence of human platelet membrane glycoproteins IIb and IIIa. Hiraiwa, A., Matsukage, A., Shiku, H., Takahashi, T., Naito, K., Yamada, K. Blood (1987) [Pubmed]
  13. Domain structure of the HSC70 cochaperone, HIP. Velten, M., Gomez-Vrielynck, N., Chaffotte, A., Ladjimi, M.M. J. Biol. Chem. (2002) [Pubmed]
  14. Structural determinants of the anti-HIV activity of a CCR5 antagonist derived from Toxoplasma gondii. Yarovinsky, F., Andersen, J.F., King, L.R., Caspar, P., Aliberti, J., Golding, H., Sher, A. J. Biol. Chem. (2004) [Pubmed]
  15. Tandem sequence duplications functionally complement deletions in the D1 protein of photosystem II. Kless, H., Vermaas, W. J. Biol. Chem. (1995) [Pubmed]
  16. Tissue specificity and serologic reactivity of an autoantigen associated with autoimmune thyroid disease. Ross, P.V., Koenig, R.J., Arscott, P., Ludgate, M., Waier, M., Nelson, C.C., Kaplan, M.M., Baker, J.R. J. Clin. Endocrinol. Metab. (1993) [Pubmed]
  17. Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene. Nishimura, D.Y., Swiderski, R.E., Searby, C.C., Berg, E.M., Ferguson, A.L., Hennekam, R., Merin, S., Weleber, R.G., Biesecker, L.G., Stone, E.M., Sheffield, V.C. Am. J. Hum. Genet. (2005) [Pubmed]
  18. The parathyroid hormone-responsive B1 gene is interrupted by a t(1;7)(q42;p15) breakpoint associated with Wilms' tumour. Vernon, E.G., Malik, K., Reynolds, P., Powlesland, R., Dallosso, A.R., Jackson, S., Henthorn, K., Green, E.D., Brown, K.W. Oncogene (2003) [Pubmed]
  19. The effects of intestinal infusion of long-chain fatty acids on food intake in humans. French, S.J., Conlon, C.A., Mutuma, S.T., Arnold, M., Read, N.W., Meijer, G., Francis, J. Gastroenterology (2000) [Pubmed]
  20. Phosphorylated FADD induces NF-kappaB, perturbs cell cycle, and is associated with poor outcome in lung adenocarcinomas. Chen, G., Bhojani, M.S., Heaford, A.C., Chang, D.C., Laxman, B., Thomas, D.G., Griffin, L.B., Yu, J., Coppola, J.M., Giordano, T.J., Lin, L., Adams, D., Orringer, M.B., Ross, B.D., Beer, D.G., Rehemtulla, A. Proc. Natl. Acad. Sci. U.S.A. (2005) [Pubmed]
  21. Inhibition of HIV-1 infection by a CCR5-binding cyclophilin from Toxoplasma gondii. Golding, H., Aliberti, J., King, L.R., Manischewitz, J., Andersen, J., Valenzuela, J., Landau, N.R., Sher, A. Blood (2003) [Pubmed]
  22. Effect of cellular determination on oncogenic transformation by chemicals and oncogenes. Harrington, M.A., Gonzales, F., Jones, P.A. Mol. Cell. Biol. (1988) [Pubmed]
  23. Light availability influences the ratio of two forms of D1 in cyanobacterial thylakoids. Schaefer, M.R., Golden, S.S. J. Biol. Chem. (1989) [Pubmed]
  24. A ganglioside antigen on the rat pancreatic B cell surface identified by monoclonal antibody R2D6. Alejandro, R., Shienvold, F.L., Hajek, S.A., Pierce, M., Paul, R., Mintz, D.H. J. Clin. Invest. (1984) [Pubmed]
  25. Biochemical characterization of tektins from sperm flagellar doublet microtubules. Linck, R.W., Stephens, R.E. J. Cell Biol. (1987) [Pubmed]
  26. Acetylcholine receptor-associated 43K protein contains covalently bound myristate. Musil, L.S., Carr, C., Cohen, J.B., Merlie, J.P. J. Cell Biol. (1988) [Pubmed]
  27. Identification of carriers of a variant plasma prealbumin (transthyretin) associated with familial amyloidotic polyneuropathy type I. Benson, M.D., Dwulet, F.E. J. Clin. Invest. (1985) [Pubmed]
  28. Metabolism of prostaglandin F2 alpha in Zellweger syndrome. Peroxisomal beta-oxidation is a major importance for in vivo degradation of prostaglandins in humans. Diczfalusy, U., Kase, B.F., Alexson, S.E., Björkhem, I. J. Clin. Invest. (1991) [Pubmed]
  29. Stimulation of Trypanosoma cruzi adenylyl cyclase by an alpha D-globin fragment from Triatoma hindgut: effect on differentiation of epimastigote to trypomastigote forms. Fraidenraich, D., Peña, C., Isola, E.L., Lammel, E.M., Coso, O., Añel, A.D., Pongor, S., Baralle, F., Torres, H.N., Flawia, M.M. Proc. Natl. Acad. Sci. U.S.A. (1993) [Pubmed]
  30. Nuclear proteins that bind the pre-mRNA 3' splice site sequence r(UUAG/G) and the human telomeric DNA sequence d(TTAGGG)n. Ishikawa, F., Matunis, M.J., Dreyfuss, G., Cech, T.R. Mol. Cell. Biol. (1993) [Pubmed]
  31. Detection of aflatoxin B1 in serum samples of male Japanese subjects by radioimmunoassay and high-performance liquid chromatography. Tsuboi, S., Nakagawa, T., Tomita, M., Seo, T., Ono, H., Kawamura, K., Iwamura, N. Cancer Res. (1984) [Pubmed]
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